J. Ingles

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Psychological adaptation to molecular autopsy findings following sudden cardiac death in the young

K. Bates, J. Sweeting, L. Yeates, 2018, Genetics in medicine : official journal of the American College of Medical Genetics.

Evaluating a custom-designed aid to improve communication of genetic results in families with hypertrophic cardiomyopathy: study protocol for a randomised controlled trial

L. Yeates, C. Semsarian, J. Ingles, 2019, BMJ Open.

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy

E. Ashley, S. Colan, J. Ware, 2020, Circulation. Genomic and precision medicine.

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

C. Caleshu, J. Ware, Q. Wells, 2019, Circulation. Genomic and precision medicine.

Exome sequencing–based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death

S. Berkovic, L. Yeates, C. Semsarian, 2017, Genetics in Medicine.

Hypertrophic Cardiomyopathy: Genetic Testing and Risk Stratification

J. Ingles, K. Thomson, F. Stafford, 2021, Current Cardiology Reports.

Sudden cardiac death in the young: a clinical genetic approach

C. Semsarian, J. Ingles, 2007, Internal medicine journal.

Long-term follow-up of patients with obstructive hypertrophic cardiomyopathy treated with dual-chamber pacing.

C. Semsarian, J. Ingles, A. Megevand, 2005, The American journal of cardiology.

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

E. Ashley, S. Colan, L. Bottolo, 2020, bioRxiv.

Associations Between Female Sex, Sarcomere Variants and Clinical Outcomes in Hypertrophic Cardiomyopathy.

E. Ashley, S. Colan, L. Leinwand, 2020, Circulation. Genomic and precision medicine.

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy

E. Ashley, S. Colan, J. Ware, 2021, European heart journal.

Pathogenicity of Hypertrophic Cardiomyopathy Variants: A Path Forward Together.

B. Funke, J. Ingles, C. Burns, 2017, Circulation. Cardiovascular genetics.

Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.

T. Driscoll, J. Atherton, L. Yeates, 2017, Circulation. Cardiovascular genetics.

The Need for Inclusive Genomic Research

J. Ingles, Neesha Krishnan, N. Krishnan, 2022, Circulation. Genomic and precision medicine.

Postmortem molecular analysis of KCNQ1 and SCN5A genes in sudden unexplained death in young Australians.

C. Semsarian, J. Ingles, N. Langlois, 2008, International journal of cardiology.

The social gradient of taking a family history

J. Ingles, C. Burns, 2015, European journal of cardiovascular nursing : journal of the Working Group on Cardiovascular Nursing of the European Society of Cardiology.

Social determinants of health in the setting of hypertrophic cardiomyopathy.

K. Ball, L. Yeates, C. Semsarian, 2015, International journal of cardiology.

Delay to diagnosis amongst patients with catecholaminergic polymorphic ventricular tachycardia.

J. Kozlovski, J. Mcgaughran, C. Semsarian, 2014, International journal of cardiology.

An Unexpected FLNC Phenotype: Expanding the Clinical Spectrum or a Second-Hit Disease Mechanism?

C. Semsarian, J. Ingles, 2019, Mayo Clinic proceedings.

Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results

C. Semsarian, J. Ingles, C. Burns, 2017, Pilot and Feasibility Studies.

Participation in thrill-seeking activities by patients with hypertrophic cardiomyopathy: Individual preferences, adverse events and physician attitude.

L. Salberg, I. Olivotto, C. Semsarian, 2019, American heart journal.

Sex Differences in Hypertrophic Cardiomyopathy: Interaction With Genetics and Environment

J. Ingles, N. Lakdawala, A. Butters, 2021, Current Heart Failure Reports.

Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

J. Skinner, R. Weintraub, C. Semsarian, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Clinical Profile and Health Disparities in a Multiethnic Cohort of Patients With Hypertrophic Cardiomyopathy

L. Yeates, C. Semsarian, J. Ingles, 2021, Circulation. Heart failure.

Doctor-patient care relationship in genetic cardiomyopathies: An exploratory study on clinical consultations

C. Fioretti, I. Olivotto, Andrea Smorti, 2020, PloS one.

Reply: What Is the True Prevalence of Hypertrophic Cardiomyopathy?

B. Maron, M. Maron, C. Semsarian, 2015, Journal of the American College of Cardiology.

Genetic architecture of left ventricular noncompaction in adults

A. Barratt, L. Yeates, C. Semsarian, 2020, Human Genome Variation.

Arrhythmia in Cardiomyopathy: Sex and Gender Differences

J. Ingles, Saurabh Kumar, S. Zaman, 2021, Current Heart Failure Reports.

Sex Disparities in Sudden Cardiac Death

J. Sweeting, C. Semsarian, J. Ingles, 2021, Circulation. Arrhythmia and electrophysiology.

Long-term follow-up of implantable cardioverter defibrillator therapy for hypertrophic cardiomyopathy.

C. Semsarian, J. Ingles, M. Mcguire, 2004, The American journal of cardiology.

Expanding the genetic spectrum of hypertrophic cardiomyopathy: X marks the spot.

C. Semsarian, J. Ingles, 2013, Circulation. Cardiovascular genetics.

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

J. Seidman, C. Seidman, C. Semsarian, 2005, Journal of Medical Genetics.

Sex hormone receptor gene variation associated with phenotype in male hypertrophic cardiomyopathy patients.

S. Humphries, L. Yeates, C. Semsarian, 2008, Journal of molecular and cellular cardiology.

Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.

R. Weintraub, C. Semsarian, J. Ingles, 2005, Journal of molecular and cellular cardiology.

Revisiting the Diagnostic Yield of Hypertrophic Cardiomyopathy Genetic Testing

J. Ingles, R. Bagnall, A. Butters, 2020, Circulation. Genomic and precision medicine.

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy

C. Semsarian, J. Ingles, R. Bagnall, 2019, Circulation. Genomic and precision medicine.

Family Matters: Outcomes of Hypertrophic Cardiomyopathy Family Screening.

C. Semsarian, J. Ingles, 2018, Circulation. Genomic and precision medicine.

Higher rates but similar causes of young out-of-hospital cardiac arrest in rural Australian patients.

D. Stub, J. Ball, C. Semsarian, 2022, The Australian journal of rural health.

Guidelines for genetic testing of inherited cardiac disorders.

D. Fatkin, L. Yeates, C. Semsarian, 2011, Heart, lung & circulation.

Response by Ingles and Semsarian to Letter Regarding Article, "Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events".

C. Semsarian, J. Ingles, 2019, Circulation. Genomic and precision medicine.

Psychosocial care and cardiac genetic counseling following sudden cardiac death in the young

J. Ingles, C. James, 2017 .

Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy

L. Yeates, C. Semsarian, J. Ingles, 2018, HeartRhythm case reports.

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy

C. Semsarian, J. Ingles, J. P. van Tintelen, 2017, Circulation. Cardiovascular genetics.

Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events.

Johan Duflou, Y. Berman, L. Yeates, 2018, Circulation. Genomic and precision medicine.

Causes, circumstances, and potential preventability of cardiac arrest in the young: insights from a state-wide clinical and forensic registry.

D. Stub, C. Semsarian, J. Ingles, 2022, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

A calibrated functional patch clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome

S. Harrison, R. Ullah, J. Ingles, 2021, bioRxiv.

The End Unexplained Cardiac Death (EndUCD) Registry for Young Australian Sudden Cardiac Arrest.

D. Stub, J. Ball, P. James, 2020, Heart, lung & circulation.

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

J. Atherton, J. Mcgaughran, L. Yeates, 2013, Genetics in Medicine.

Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy.

E. Ashley, J. Ware, I. Olivotto, 2021, European heart journal.

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.

L. Yeates, C. Semsarian, J. Ingles, 2010, Journal of the American College of Cardiology.

Effects of Energy Drinks in Familial Long QT Syndrome : A Randomized Cross-Over Study

T. Driscoll, C. Semsarian, J. Ingles, 2017 .

Clinical Genetics

J. Ingles, J. van der Smagt, 2020, Clinical Cardiogenetics.

A Validated Model for Sudden Cardiac Death Risk Prediction in Pediatric Hypertrophic Cardiomyopathy

S. Colan, M. Lafreniere-Roula, R. Weintraub, 2020, Circulation.

Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy

P. Phongsavan, C. Semsarian, J. Ingles, 2008, Genetics in Medicine.

Using codesign focus groups to develop an online COmmunity suPporting familiEs after Sudden Cardiac Death (COPE-SCD) in the young

A. McEwen, L. Yeates, C. Semsarian, 2022, BMJ Open.

Global approaches to cardiogenetic evaluation after sudden cardiac death in the young: A survey among healthcare professionals.

J. Skinner, Johan Duflou, L. Yeates, 2021, Heart rhythm.

Global approaches to postmortem genetic testing after sudden cardiac death in the young: A survey among healthcare professionals

J. Skinner, J. Duflou, L. Yeates, 2020, medRxiv.

Determining pathogenicity in cardiac genetic testing: Filling in the blank spaces.

C. Semsarian, J. Ingles, 2015, Trends in cardiovascular medicine.

Psychological wellbeing and posttraumatic stress associated with implantable cardioverter defibrillator therapy in young adults with genetic heart disease.

C. Semsarian, J. Ingles, N. Kasparian, 2013, International journal of cardiology.

Co-designing an online COmmunity suPporting familiEs after Sudden Cardiac Death (COPE-SCD) in the young

L. Yeates, C. Semsarian, J. Ingles, 2021, medRxiv.

Health Status of Cardiac Genetic Disease Patients and Their At-risk Relatives

P. Scuffham, J. Atherton, J. Mcgaughran, 2011 .

Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy

A. Barratt, C. Bonner, C. Semsarian, 2018, Journal of Genetic Counseling.

Nonfamilial Hypertrophic CardiomyopathyCLINICAL PERSPECTIVE

T. Driscoll, J. Atherton, L. Yeates, 2017 .

71 – Genetic Testing

C. Semsarian, J. Ingles, 2014 .

Homozygous mutation in the cardiac troponin I gene: clinical heterogeneity in hypertrophic cardiomyopathy.

L. Yeates, C. Semsarian, J. Ingles, 2013, International journal of cardiology.

Prevalence of Coronary Artery Anomalies in Young and Middle-Aged Sudden Cardiac Death Victims (from a Prospective State-Wide Registry).

D. Stub, J. Ball, C. Semsarian, 2022, The American journal of cardiology.

Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction Insights the Registry

S. Colan, J. Ware, C. Semsarian, 2020 .

The Australian Genetic Heart Disease Registry.

C. Semsarian, J. Ingles, 2013, International journal of cardiology.

Prevalence of Anderson-Fabry disease in a cohort with unexplained late gadolinium enhancement on cardiac MRI.

L. Yeates, C. Semsarian, J. Ingles, 2019, International journal of cardiology.

Rarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen-Tawil syndrome: Two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT).

J. Atherton, J. Mcgaughran, C. Semsarian, 2015, International journal of cardiology.

What Is the Risk of Sudden Cardiac Arrest in Inherited Cardiac Conditions?

J. Ware, J. Ingles, 2020, Journal of the American College of Cardiology.

Obesity in young sudden cardiac death: Rates, clinical features, and insights into people with body mass index >50kg/m2

D. Stub, C. Semsarian, J. Ingles, 2022, American journal of preventive cardiology.

Evaluating a communication aid for return of genetic results in families with hypertrophic cardiomyopathy: A randomized controlled trial

J. Sweeting, L. Yeates, C. Semsarian, 2021, medRxiv.

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)

Matthew S. Lebo, J. Ware, D. Macaya, 2021, The Journal of molecular diagnostics : JMD.

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy.

M. Link, L. Mestroni, H. Calkins, 2019, Heart rhythm.

Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families.

L. Yeates, C. Semsarian, J. Ingles, 2022, Journal of the American College of Cardiology.

Predictors and outcomes of in-hospital referrals for forensic investigation after young sudden cardiac death.

D. Stub, J. Ball, C. Semsarian, 2022, Heart rhythm.

Indications and utility of cardiac genetic testing in athletes.

E. Behr, A. Wilde, C. Basso, 2022, European journal of preventive cardiology.

Genome-Wide Analysis Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy: A

L. Yeates, C. Semsarian, J. Ingles, 2011 .

P Hypertrophic Cardiomyopathy Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy

L. Yeates, C. Semsarian, J. Ingles, 2022 .

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment

C. Semsarian, J. Ingles, R. Bagnall, 2013, Genetics in Medicine.

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Birgit Funke, Eden Haverfield, Ana Morales, 2018, Genetics in Medicine.

New perspectives on the prevalence of hypertrophic cardiomyopathy.

Barry J Maron, Christopher Semsarian, B. Maron, 2015, Journal of the American College of Cardiology.

2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families

C. Morillo, E. Kaufman, C. Albert, 2020, Heart rhythm.

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

J. Seidman, D. Fatkin, M. Cowley, 2018, Genetics in Medicine.

Whole-Genome Sequencing as a First-Line Genetic Test in Familial Dilated Cardiomyopathy

J. Seidman, D. Fatkin, M. Cowley, 2018, Genetics in Medicine.

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

A. Need, C. Tregidgo, R. Weintraub, 2022, npj Genomic Medicine.

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

S. Scherer, R. Weintraub, Marta Melé, 2022, NPJ genomic medicine.

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia.

Andrew B. Kirke, A. Keech, H. White, 2020, Heart, lung & circulation.

Genetic Basis of Childhood Cardiomyopathy

R. Weintraub, C. Semsarian, J. Ingles, 2022, Circulation. Genomic and precision medicine.

The genetic architecture of Plakophilin 2 cardiomyopathy

R. Nussbaum, L. Mestroni, C. Basso, 2021, Genetics in Medicine.

Discordant clinical features of identical hypertrophic cardiomyopathy twins

J. Seidman, A. Pereira, C. Seidman, 2021, Proceedings of the National Academy of Sciences.

An Evidence-based Assessment of Genes in Dilated Cardiomyopathy

D. Judge, J. Ware, R. L. Lekanne Deprez, 2020, medRxiv.

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary.

M. Link, L. Mestroni, H. Calkins, 2019, Heart rhythm.

Genetic Testing in Inherited Heart Diseases.

J. Ingles, I. Macciocca, K. Thomson, 2016, Heart, lung & circulation.

Adaptation and validation of the ACMG / AMP variant classification framework for MYH 7-associated inherited cardiomyopathies

Birgit Funke, Eden Haverfield, Ana Morales, 2018 .

Role of Genetic Testing in Inherited Cardiovascular Disease: A Review

C. Caleshu, D. Judge, I. Olivotto, 2017, JAMA cardiology.

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing

C. Semsarian, J. Ingles, C. Burns, 2017, Circulation. Cardiovascular genetics.

Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective

Andrew B. Kirke, Clara K. Chow, A. Keech, 2021, American journal of preventive cardiology.

Interdisciplinary psychosocial care for families with inherited cardiovascular diseases.

E. Ashley, M. Perez, C. Caleshu, 2016, Trends in cardiovascular medicine.

2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families

C. Morillo, E. Kaufman, C. Albert, 2020, Journal of arrhythmia.

Application of Genetic Testing in Hypertrophic Cardiomyopathy for Preclinical Disease Detection

A. Barratt, C. Semsarian, J. Ingles, 2015, Circulation. Cardiovascular genetics.

Molecular diagnostics of cardiomyopathies: the future is here.

C. Semsarian, J. Ingles, R. Bagnall, 2011, Circulation. Cardiovascular genetics.

Editorial commentary: Genetic contributions to cardiovascular disease: The blurred lines between monogenic and polygenic traits.

J. Ingles, J. Bos, J. Bos, 2017, Trends in cardiovascular medicine.

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

K. Downes, H. Rehm, D. Baralle, 2021, Genome Medicine.

Communication of genetic information to families with inherited rhythm disorders.

J. Ingles, C. Burns, C. James, 2017, Heart rhythm.

A Prospective Study of Sudden Cardiac Death among Children and Young Adults.

J. Skinner, R. Weintraub, J. Atherton, 2016, The New England journal of medicine.

Posttraumatic Stress and Prolonged Grief After the Sudden Cardiac Death of a Young Relative.

K. McGeechan, L. Yeates, C. Semsarian, 2016, JAMA internal medicine.

The emerging role of the cardiac genetic counselor.

L. Yeates, C. Semsarian, J. Ingles, 2011, Heart rhythm.

Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3

C. Semsarian, J. Ingles, S. Lal, 2021, Circulation. Genomic and precision medicine.

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation

E. Ashley, S. Colan, J. Ware, 2020, Genetics in Medicine.

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.

Marcel E Dinger, Diane Fatkin, Christopher Semsarian, 2018, Journal of the American College of Cardiology.

Molecular autopsy in victims of inherited arrhythmias

C. Semsarian, J. Ingles, 2015, Journal of arrhythmia.

Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives.

A. Wilde, C. Semsarian, J. Ingles, 2015, European heart journal.

Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy

L. Steinmetz, R. Nussbaum, L. Mestroni, 2019, Circulation. Heart failure.

Genetic Testing for Cardiomyopathies in Clinical Practice.

C. Semsarian, J. Ingles, R. Bagnall, 2018, Heart failure clinics.

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study

C. Semsarian, J. Ingles, C. Burns, 2016, Journal of arrhythmia.

NOS1AP Polymorphisms Modify QTc Interval Duration But Not Cardiac Arrest Risk in Hypertrophic Cardiomyopathy

J. Skinner, C. Semsarian, J. Ingles, 2015, Journal of cardiovascular electrophysiology.

Epidemiology and clinical characteristics of atrial fibrillation in patients with inherited heart diseases

C. Semsarian, J. Ingles, R. Sy, 2020, Journal of cardiovascular electrophysiology.

Temporal Trends in Sudden Cardiac Death From 1997 to 2010: A Data Linkage Study.

M. Knuiman, C. Semsarian, J. Ingles, 2017, Heart, lung & circulation.

Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent

R. Sebra, A. Tonkin, D. Fatkin, 2021, npj Genomic Medicine.

Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent

C. Reid, R. Sebra, J. McNeil, 2021, NPJ genomic medicine.

Impact of the implantable cardioverter defibrillator on confidence to undertake physical activity in inherited heart disease: A cross-sectional study

K. Ball, J. Atherton, J. Sweeting, 2017, European journal of cardiovascular nursing : journal of the Working Group on Cardiovascular Nursing of the European Society of Cardiology.

Challenges of Exercise Recommendations and Sports Participation in Genetic Heart Disease Patients

K. Ball, J. Sweeting, C. Semsarian, 2015, Circulation. Cardiovascular genetics.

Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy.

E. Ashley, S. Colan, A. Pereira, 2019, JAMA cardiology.

Progression of left ventricular hypertrophy and the angiotensin-converting enzyme gene polymorphism in hypertrophic cardiomyopathy.

C. Semsarian, J. Ingles, L. Nguyen, 2004, International journal of cardiology.

Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy

L. Yeates, C. Semsarian, J. Ingles, 2017, European Journal of Human Genetics.

Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood

J. Atherton, C. Semsarian, J. Ingles, 2018, Journal of Genetic Counseling.

A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy

P. Scuffham, J. Atherton, C. Semsarian, 2011, Heart.

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.

E. Haan, C. Semsarian, J. Ingles, 2016, Heart rhythm.

Sudden Cardiac Arrest in the Paediatric Population

J. Ingles, S. Franciosi, D. Abrams, 2022, CJC pediatric and congenital heart disease.

A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death.

L. Yeates, C. Semsarian, J. Ingles, 2019, Heart rhythm.

Prolongation of the QTc interval predicts appropriate implantable cardioverter-defibrillator therapies in hypertrophic cardiomyopathy.

C. Semsarian, J. Ingles, C. Medi, 2013, JACC. Heart failure.

An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia

Rahul C. Deo, J. Healey, C. January, 2020, Circulation.

Health status of cardiac genetic disease patients and their at-risk relatives.

P. Scuffham, J. Atherton, L. Yeates, 2013, International journal of cardiology.

Minding the Genes: a Multidisciplinary Approach towards Genetic Assessment of Cardiovascular Disease

S. Sears, J. Cahill, J. Ingles, 2017, Journal of Genetic Counseling.

The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic

L. Yeates, C. Semsarian, J. Ingles, 2022, Genome Medicine.

Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes: JACC Focus Seminar 1/5.

S. Dunwoodie, J. Kovacic, C. Semsarian, 2021, Journal of the American College of Cardiology.

Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.

P. Scuffham, J. Atherton, C. Semsarian, 2021, International journal of cardiology.

Time to Rethink the Genetic Architecture of Long QT Syndrome

C. Semsarian, J. Ingles, 2020, Circulation.

Implantable cardioverter-defibrillators in previously undiagnosed patients with catecholaminergic polymorphic ventricular tachycardia resuscitated from sudden cardiac arrest.

J. Skinner, E. Behr, P. Schwartz, 2019, European heart journal.

Making The Case For Cascade Screening Amongst Families With Inherited Heart Diseases.

C. Semsarian, J. Ingles, 2019, Heart rhythm.

Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants.

E. Behr, M. Sheppard, A. Wilde, 2018, Heart rhythm.

Relations between right ventricular morphology and clinical, electrical and genetic parameters in Brugada Syndrome

S. Grieve, G. Gnanappa, L. Yeates, 2018, PloS one.

Routinely collected health data to study inherited heart disease: a systematic review (2000–2016)

J. Sweeting, C. Semsarian, J. Ingles, 2017, Open Heart.

Cardiovascular Effects of Energy Drinks in Familial Long QT Syndrome: A Randomized Cross-Over Study.

T. Driscoll, C. Semsarian, J. Ingles, 2017, International journal of cardiology.

LAMP2 shines a light on cardiomyopathy in an athlete

C. Semsarian, J. Ingles, R. Bagnall, 2017, HeartRhythm case reports.

Factors influencing uptake of familial long QT syndrome genetic testing

C. Semsarian, J. Ingles, C. Burns, 2016, American journal of medical genetics. Part A.

Sudden death in athletes: preventable or inevitable?

J. Sweeting, C. Semsarian, J. Ingles, 2014, Heart rhythm.

The value of cardiac genetic testing.

C. Semsarian, J. Ingles, 2014, Trends in cardiovascular medicine.

Psychological Wellbeing and Posttraumatic Stress Associated with Implantable Cardioverter Defibrillator Therapy in Young Adults with Genetic Heart Disease

C. Semsarian, J. Ingles, N. Kasparian, 2013 .

Implantable cardioverter–defibrillator therapy in Australia, 2002–2015

C. Semsarian, J. Ingles, R. Sy, 2018, The Medical journal of Australia.

Conveying a probabilistic genetic test result to families with an inherited heart disease.

C. Semsarian, J. Ingles, 2014, Heart rhythm.

External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy

R. Omar, T. Ojala, I. Olivotto, 2021, European journal of preventive cardiology.

Natural history of genotype positive-phenotype negative patients with hypertrophic cardiomyopathy.

C. Semsarian, J. Ingles, B. Gray, 2011, International journal of cardiology.

Perceptions of genetic variant reclassification in patients with inherited cardiac disease

E. Wong, A. Krahn, L. Yeates, 2019, European Journal of Human Genetics.

Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Angharad M Roberts, V. Novelli, W. Zareba, 2023, Genome Medicine.

Exome sequencing–based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death

S. Berkovic, L. Yeates, C. Semsarian, 2017, Genetics in Medicine.

Inherited cardiomyopathies

J. Ingles, Renee Johnson, E. Richardson, 2021, Clinical DNA Variant Interpretation.

A Control Theory-Based Pilot Intervention toIncrease Physical Activity in Patients WithHypertrophic Cardiomyopathy.

K. Ball, J. Sweeting, C. Semsarian, 2018, The American journal of cardiology.

Physical activity in hypertrophic cardiomyopathy: prevalence of inactivity and perceived barriers

A. Timperio, K. Ball, J. Sweeting, 2016, Open Heart.

Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

R. Weintraub, C. Semsarian, J. Ingles, 2020, Genetics in Medicine.

Patients With Genetic Heart Disease and COVID-19: A Cardiac Society of Australia and New Zealand (CSANZ) Consensus Statement

J. Skinner, D. Fatkin, P. Sanders, 2020, Heart, Lung and Circulation.

Revisiting Genome Sequencing Data in Light of Novel Disease Gene Associations.

C. Semsarian, J. Ingles, R. Bagnall, 2019, Journal of the American College of Cardiology.

Sudden cardiac death in the young: A qualitative study of experiences of family members with cardiogenetic evaluation

L. Yeates, C. Semsarian, J. Ingles, 2022, medRxiv.

Psychological Issues in Managing Families with Inherited Cardiovascular Diseases.

J. Ingles, 2019, Cold Spring Harbor perspectives in medicine.

Preventing sudden cardiac death in athletes

C. Semsarian, J. Ingles, 2016, British Medical Journal.

Poor psychological wellbeing particularly in mothers following sudden cardiac death in the young

L. Yeates, C. Semsarian, J. Ingles, 2013, European journal of cardiovascular nursing : journal of the Working Group on Cardiovascular Nursing of the European Society of Cardiology.

Sudden cardiac death rates in an Australian population: a data linkage study.

M. Knuiman, C. Semsarian, J. Ingles, 2015, Australian health review : a publication of the Australian Hospital Association.

A prospective longitudinal study of health-related quality of life and psychological wellbeing after an implantable cardioverter-defibrillator in patients with genetic heart diseases

K. McGeechan, S. Sears, K. Bates, 2021, medRxiv.

Establishment of an Australian National Genetic Heart Disease Registry.

R. Weintraub, J. Atherton, C. Semsarian, 2008, Heart, lung & circulation.

Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.

J. Arthur, L. Yeates, C. Semsarian, 2007, Journal of molecular and cellular cardiology.

How Patient Perceptions Shape Responses and Outcomes in Inherited Cardiac Conditions.

J. Skinner, E. Broadbent, J. Ingles, 2019, Heart, lung & circulation.

Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction

E. Ashley, S. Colan, J. Ware, 2020, Circulation.

Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life

P. Scuffham, J. Atherton, L. Yeates, 2012, Genetics in Medicine.

Daily Step Count as a Simple Marker of Disease Severity in Hypertrophic Cardiomyopathy.

K. Ball, J. Sweeting, C. Semsarian, 2018, Heart, lung & circulation.

Epidemiology of pediatric out-of-hospital cardiac arrest compared with adults.

D. Stub, C. Semsarian, J. Ingles, 2023, Heart rhythm.

Left Ventricular Systolic Dysfunction in Patients Diagnosed With Hypertrophic Cardiomyopathy During Childhood: Insights From the SHaRe Registry

E. Ashley, J. Ware, I. Olivotto, 2023, Circulation.

Sudden Cardiac Death in People With Schizophrenia: Higher Risk, Poorer Resuscitation Profiles, and Differing Pathologies.

D. Stub, C. Semsarian, J. Ingles, 2023, JACC. Clinical electrophysiology.

Incorporating a Polygenic Risk Score-Triaged Coronary Calcium Score into Cardiovascular Disease Examinations to Identify SubClinicAL coronAry arTEry Disease (ESCALATE): Protocol for a Prospective, Non-Randomised Implementation Trial.

S. Grieve, G. Figtree, T. Usherwood, 2023, American heart journal.

2023 ESC Guidelines for the management of cardiomyopathies.

B. Lewis, L. Fauchier, L. Neubeck, 2023, European heart journal.

Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study

L. Yeates, Kristie McDonald, C. Semsarian, 2021, European Journal of Human Genetics.

Needs analysis of parents following sudden cardiac death in the young

L. Yeates, Kristie McDonald, C. Semsarian, 2020, Open Heart.

The Lancet Commission to reduce the global burden of sudden cardiac death: a call for multidisciplinary action

G. Hindricks, C. Albert, É. Marijon, 2023, The Lancet.

Sudden cardiac death in the young: a clinical genetic approach

C. Semsarian, J. Ingles, 2007 .

Response to Brodehl et al.

J. Seidman, D. Fatkin, M. Cowley, 2018, Genetics in Medicine.

Sex-Specific Clinical and Genetic Factors Associated with Adverse Outcomes in Hypertrophic Cardiomyopathy

J. Atherton, I. Olivotto, J. Sweeting, 2023, medRxiv.

New York Heart Association Functional Class And Mortality In Obstructive Hypertrophic Cardiomyopathy

I. Olivotto, C. Semsarian, J. Ingles, 2022, Journal of Cardiac Failure.

TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy

R. Weintraub, C. Semsarian, J. Ingles, 2023, Journal of Medical Genetics.

Prevalence of illicit drug use in young patients with sudden cardiac death

D. Stub, J. Ingles, Z. Nehme, 2023, Heart Rhythm.

NON-FAMILIAL HYPERTROPHIC CARDIOMYOPATHY: PREVALENCE, NATURAL HISTORY AND CLINICAL IMPLICATIONS

T. Driscoll, J. Atherton, L. Yeates, 2017 .

The New South Wales Sudden Cardiac Arrest Registry: A Data Linkage Cohort Study.

G. Figtree, J. Sweeting, L. Yeates, 2023, Heart, lung & circulation.

Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest

C. Semsarian, J. Ingles, R. Bagnall, 2015, HeartRhythm case reports.

Genetics of HCM and Role of Genetic Testing

C. Semsarian, J. Ingles, 2018, Hypertrophic Cardiomyopathy.

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

J. Atherton, L. Yeates, C. Semsarian, 2013, Genetics in Medicine.

New perspectives on the prevalence of hypertrophic cardiomyopathy.

B. Maron, M. Maron, C. Semsarian, 2015, Journal of the American College of Cardiology.

A Needs Analysis of Parents Following Sudden Cardiac Death in the Young

L. Yeates, Kristie McDonald, C. Semsarian, 2019 .

Psychological adaptation to molecular autopsy findings following sudden cardiac death in the young

J. Sweeting, L. Yeates, Kristie McDonald, 2018, Genetics in Medicine.

Evaluating a custom-designed aid to improve communication of genetic results in families with hypertrophic cardiomyopathy: study protocol for a randomised controlled trial

L. Yeates, C. Semsarian, J. Ingles, 2019, BMJ Open.

Perceptions of genetic variant reclassification in patients with inherited cardiac disease

E. Wong, A. Krahn, L. Yeates, 2019, European Journal of Human Genetics.

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

R. L. Lekanne Deprez, C. Semsarian, J. Ingles, 2021, Circulation.

Whole-Genome Sequencing as a First-Line Genetic Test in Familial Dilated Cardiomyopathy

J. Seidman, D. Fatkin, M. Cowley, 2018, Genetics in Medicine.

Prevalence of illicit drug use in young sudden cardiac death patients.

D. Stub, J. Ingles, Z. Nehme, 2023, Heart rhythm.

Causes, circumstances, and potential preventability of cardiac arrest in the young: insights from a state-wide clinical and forensic registry.

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death

L. Yeates, C. Semsarian, J. Ingles, 2023, NPJ genomic medicine.

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch clamp assay

J. Ingles, B. Kroncke, C. Bezzina, 2023, medRxiv.

Mutation analysis of the natriuretic peptide precursor B (NPPB) gene in patients with hypertrophic cardiomyopathy

C. Semsarian, J. Ingles, J. Lind, 2006, DNA sequence : the journal of DNA sequencing and mapping.

A clinical approach to genetic testing for non-specialists

C. Semsarian, J. Ingles, 2017, British Medical Journal.

A rare splice-site variant in cardiac troponin-T (TNNT2): The need for ancestral diversity in genomic reference datasets

C. Caleshu, C. Semsarian, J. Ingles, 2024, medRxiv.

Prevalence of Multiple Causes of Death Within Young and Middle-Aged People Experiencing Sudden Cardiac Arrest.

D. Stub, C. Semsarian, J. Ingles, 2023, Heart, lung & circulation.

Inconsistent discharge diagnoses for young cardiac arrest episodes: insights from a statewide registry

D. Stub, J. Ball, C. Semsarian, 2022, Internal medicine journal.

Genetic architecture of left ventricular noncompaction in adults.

A. Barratt, L. Yeates, C. Semsarian, 2020, Human Genome Variation.

Reply: What Is the True Prevalence of Hypertrophic Cardiomyopathy?

B. Maron, M. Maron, C. Semsarian, 2015, Journal of the American College of Cardiology.

Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants

A. Stergachis, J. Ingles, V. Parikh, 2023, medRxiv.

Long-Term Arrhythmic Follow-Up and Risk Stratification of Patients With Desmoplakin-Associated Arrhythmogenic Right Ventricular Cardiomyopathy

I. Olivotto, J. Ingles, A. Saguner, 2024, JACC. Advances.

Prevalence of atrial septal defects and patent foramen ovale in a cohort of sudden cardiac death patients undergoing autopsy.

D. Stub, C. Semsarian, J. Ingles, 2023, Journal of cardiology.

Expanding the genetic spectrum of hypertrophic cardiomyopathy: X marks the spot.

C. Semsarian, J. Ingles, 2013, Circulation. Cardiovascular genetics.

What do we do and how do we do it? Assessing genetic counselling in the modern era

A. McEwen, L. Yeates, J. Ingles, 2020, European Journal of Human Genetics.